Disorders


 

Dihydrolipoamide Dehydrogenase E3 Deficiency


 

OMIM

GeneLocusProtein
DLD7q31-q32Dihydrolipoyl dehydrogenase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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